ArticleNucleic acids research1994
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Article in Nucleic acids research, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 148 citations in OpenAlex.
- Loss of factor VIII in zebrafish rebalances antithrombin deficiency but has a limited bleeding diathesis.bioRxiv : the preprint server for biology · 2024Article
- microRNAs and genetic diseases.PathoGenetics · 2009Article
- Site-specific labeling of T7 DNA polymerase with a conformationally sensitive fluorophore and its use in detecting single-nucleotide polymorphisms.Analytical biochemistry · 2009Article
- Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.American journal of human genetics · 1997Article
- Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.The Biochemical journal · 1996Article
- Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.American journal of human genetics · 1996Article
- Improvements to the GDB Human Genome Data Base.Nucleic acids research · 1996Article
- Proposed structure of the A domains of factor VIII by homology modelling.Nature structural biology · 1995Article
- Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype.Human genetics · 1995Article
- Systematic molecular analysis of hemophilia A patients from Colombia.Genetics and molecular biologyArticle
Corrections and comments
- Republished as
Authors and funding
10 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.